C0017921[trait identifier] AND "Genetics and Molecular Pathology, SA P - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 4027	NM_000152.5(GAA):c.-32-13T>G	GAA	Single nucleotide variant (intron variant)	Glycogen storage disease due to acid maltase deficiency, late-onset +6 more	GPathogenic/Likely pathogenic
Select item 371235	NM_000152.5(GAA):c.1222A>G (p.Met408Val)	GAA (M408V)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GLikely pathogenic FDA Recognized database